Allele Registry

Canonical Allele Identifier: PA916037011

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000578114

RCV002298690

ClinVar Variation:

488186

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val970Asp	CA349068040 NM_001353961.2:c.2909T>A